Canonical Allele Identifier: CA1105051311

Gene: ACTL6B

Linked Data

• dbSNP Id: rs1803824901
• gnomAD v3: 7-100646528-C-CTGGGTAAGGGG
• gnomAD v4: 7-100646528-C-CTGGGTAAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646533_100646534insAAGGGGTGGGT , CM000669.2:g.100646533_100646534insAAGGGGTGGGT	GRCh38
NC_000007.13:g.100244156_100244157insAAGGGGTGGGT , CM000669.1:g.100244156_100244157insAAGGGGTGGGT	GRCh37
NC_000007.12:g.100082092_100082093insAAGGGGTGGGT	NCBI36
NG_007989.1:g.22_23insCCCCTTACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+22_1113+23insCCCCTTACCCA MANE Select	ENSP00000160382.5:n.1113+22_1113+23insCCCCTTACCCA
ENST00000160382.9:c.1113+22_1113+23insCCCCTTACCCA	ENSP00000160382.5:n.1113+22_1113+23insCCCCTTACCCA
ENST00000487125.1:n.675+22_675+23insCCCCTTACCCA
NM_016188.4:c.1113+22_1113+23insCCCCTTACCCA	NP_057272.1:n.1113+22_1113+23insCCCCTTACCCA
XR_927476.1:n.1220+22_1220+23insCCCCTTACCCA
NR_134539.1:n.1220+22_1220+23insCCCCTTACCCA
NM_016188.5:c.1113+22_1113+23insCCCCTTACCCA MANE Select	NP_057272.1:n.1113+22_1113+23insCCCCTTACCCA
NR_134539.2:n.1207+22_1207+23insCCCCTTACCCA